A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test

Abstract

upper limit of a 95% range. These increases were probably due to failure of the mother to metabolize hyp and xan transferred from the fetus. Xanthine oxidase deficiency is rare. We screened 47 420 patients retrospectively (Harkness et al., 1983) and 1000 prospectively at Harrow and found this one deficiency. A retrospective search of 20 000 patient records at the Royal Infirmary, Edinburgh, revealed no unexplained hypouricaemia (<70/zmol L -1) which justified further investigation. 27 patients had one or more low values; 3 patients were on haemodialysis, 7 patients were being treated for acute myeloid leukaemia or Hodgkin's disease, 4 patients had died and 13 patients with a variety of diagnoses mostly had one or two unexplained values, possibly aspirin effects. We found one case in 68 420 patients. A population survey in Western Australia found one case in 5 993 individuals (Wearne and Curnow, personal communication).

DOI: 10.1007/BF01800500

Cite this paper

@article{Charpentier1986ANC, title={A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test}, author={Claire Charpentier and Marie Magdeleine Coud{\'e} and J-L. Perignon and Anne Lombes and J-M. Saudubray and Priscille Divry}, journal={Journal of Inherited Metabolic Disease}, year={1986}, volume={9}, pages={408-409} }